Literature DB >> 7599640

Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.

P Li1, P Huffman, J N Thompson.   

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Year:  1995        PMID: 7599640     DOI: 10.1002/humu.1380050314

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


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  6 in total

1.  A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease.

Authors:  L Gort; A Chabás; M J Coll
Journal:  J Inherit Metab Dis       Date:  1999-10       Impact factor: 4.982

2.  Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

Authors:  Paulina Nieves Cobos; Cordula Steglich; René Santer; Zoltan Lukacs; Andreas Gal
Journal:  JIMD Rep       Date:  2014-05-06

3.  Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.

Authors:  M Rathmann; S Bunge; M Beck; H Kresse; A Tylki-Szymanska; A Gal
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

4.  Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).

Authors:  P Li; A B Bellows; J N Thompson
Journal:  J Med Genet       Date:  1999-01       Impact factor: 6.318

5.  Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.

Authors:  T C Olsen; H G Eiken; P M Knappskog; B F Kase; J E Månsson; H Boman; J Apold
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

6.  Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).

Authors:  Alla Nikolaevna Semyachkina; Elena Yurievna Voskoboeva; Ekaterina Alexandrovna Nikolaeva; Ekaterina Yurievna Zakharova
Journal:  BMC Med Genomics       Date:  2021-03-06       Impact factor: 3.063

  6 in total

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